Cystic Fibrosis

Since the discovery of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene in 1989, more than 2000 mutations have been described in patients with Cystic Fibrosis. Many of these mutations are rare, having been identified in only one patient and/or family. It is common practise to screen for the most common CFTR mutations first, as routine detection of all mutations is not cost-effective for many molecular genetics laboratories. Elucigene Diagnostics have produced a suite of diagnostic products targeting the most common CFTR mutations, providing maximum clinical coverage at a competitive price.